Branchio-Oto-Renal (BOR) syndrome is a genetic condition characterized by a combination of ear, kidney, and branchial arch anomalies. It is often associated with mutations in the EYA1 gene ...

On rare occasions, a preauricular pit appears as a feature of another condition, such as Beckwith-Wiedemann syndrome or ...

Our overarching goal is to help patients and their families understand the gen etic causes of SIX1-related birth defects (e.g., branchio-oto-renal syndrome, craniosynostosis), and to develop ...